Rhabdomyolysis and Metabolic Myopathy (Version 1.20)

Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Rhabdomyolysis, HP:0003201;Exercise intolerance, HP:0003546;Metabolic myopathy, MONDO:0020123
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease

Description

This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.

Depending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.

This panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.

Panel Activity

23 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Sebastian Lunke (Victorian Clinical Genetics Services)
Sarah Donoghue (Royal Children's Hospital)
Paul De Fazio (Victorian Clinical Genetics Services)
Eleanor Williams (Genomics England)
Arina Puzriakova (Genomics England)
Samantha Ayres (Victorian Clinical Genetics Services)
Danielle Ariti (University of Melbourne)
Manny Jacobs (Victorian Clinical Genetics Services)
Mark Cleghorn (Royal Melbourne Hospital)
Teresa Zhao (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Sangavi Sivagnanasundram (Melbourne Health)
Crystle Lee (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Ee Ming Wong (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Krithika Murali (Victorian Clinical Genetics Services)
Belinda Chong (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

104 Entities

104 reviewed, 85 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 104 Entitiess
Green Green List (high evidence)	AARS2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Other Phenotypes Combined oxidative phosphorylation deficiency 8 MIM#614096 Tags
Green Green List (high evidence)	ABHD5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Dorfman-Chanarin disease MONDO:0010155 Tags
Green Green List (high evidence)	ACAD9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency 611126 Tags treatable
Green Green List (high evidence)	ACADM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of 201450 Rhabdomyolysis Tags treatable
Green Green List (high evidence)	ACADVL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes VLCAD deficiency 201475 Tags treatable
Green Green List (high evidence)	AGK	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Sengers Syndrome (MIM#212350 MONDO:0008922) Tags
Green Green List (high evidence)	AGL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Glycogen storage disease IIIa 232400 Glycogen storage disease IIIb 232400 Tags
Green Green List (high evidence)	AHCY	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752 Tags
Green Green List (high evidence)	AIFM1	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Other Phenotypes Combined oxidative phosphorylation deficiency 6 (COXPD6) (MIM#300816) Encephalamyopathy, Mitochondrial, X-Linked Tags
Green Green List (high evidence)	ALDOA	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease XII 611881 Tags
Green Green List (high evidence)	ANO5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Miyoshi muscular dystrophy 3 613319 Muscular dystrophy, limb-girdle, type 2L 611307 Tags
Green Green List (high evidence)	ATP2A1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Brody myopathy, MIM# 601003 Tags
Green Green List (high evidence)	C1QBP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Progressive external opthalmoplegia mitochondrial myopathy Tags
Green Green List (high evidence)	CACNA1S	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes {Malignant hyperthermia susceptibility 5}, 601887 Tags
Green Green List (high evidence)	CASQ1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Myopathy, vacuolar, with CASQ1 aggregates MIM#616231 Tags
Green Green List (high evidence)	CAV3	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type IC 607801 Rippling muscle disease 606072 Myopathy, distal, Tateyama type 614321 Tags
Green Green List (high evidence)	CHCHD10	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532 Tags
Green Green List (high evidence)	COQ8A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 4 MIM#612016 Tags treatable
Green Green List (high evidence)	CPT2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature NHS GMS Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110 Tags treatable
Green Green List (high evidence)	DGUOK	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880 Portal hypertension, noncirrhotic, 1, MIM# 617068 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070 Tags
Green Green List (high evidence)	DMD	4 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Becker muscular dystrophy 300376 Tags
Green Green List (high evidence)	DNA2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156 Tags
Green Green List (high evidence)	DTNA	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, MONDO:0020121, DTNA-related Tags
Green Green List (high evidence)	DYSF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 2B 253601 Myopathy, distal, with anterior tibial onset 606768 Miyoshi muscular dystrophy 1 254130 Tags
Green Green List (high evidence)	ENO3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Glycogen storage disease XIII 612932 Tags
Green Green List (high evidence)	ETFA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Glutaric acidemia IIA 231680 Tags treatable
Green Green List (high evidence)	ETFDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Glutaric acidemia IIC 231680 Tags treatable
Green Green List (high evidence)	FASTKD2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Other Phenotypes Combined oxidative phosphorylation deficiency 44 (MIM#618855) Tags
Green Green List (high evidence)	FDX2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900 Tags
Green Green List (high evidence)	FKRP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 Tags
Green Green List (high evidence)	FLAD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100 Tags
Green Green List (high evidence)	GAA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Glycogen storage disease II (MIM#232300) Tags
Green Green List (high evidence)	GBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease IV, MIM# 232500 Polyglucosan body disease, adult form MIM#263570 Tags
Green Green List (high evidence)	GFER	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Other Phenotypes Myopathy, mitochondrial progressive, with congenital cataract and developmental delay (MIM#613076) Tags
Green Green List (high evidence)	GMPPB	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 MIM#615352 Limb myalgia exercise intolerance myoglobinuria Tags
Green Green List (high evidence)	GUK1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 21, MIM# 621071 Tags
Green Green List (high evidence)	GYG1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?Glycogen storage disease XV 613507 Polyglucosan body myopathy 2 616199 Tags
Green Green List (high evidence)	GYS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease 0, muscle 611556 Tags
Green Green List (high evidence)	HADHA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes LCHAD deficiency MIM#609016 Trifunctional protein deficiency MIM#609015 Tags treatable
Green Green List (high evidence)	HADHB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Trifunctional protein deficiency MIM#609015 Tags treatable
Green Green List (high evidence)	HMBS	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Porphyria, acute intermittent MIM#176000 Tags
Green Green List (high evidence)	ISCU	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Myopathy with lactic acidosis, hereditary, MIM# 255125 Tags
Green Green List (high evidence)	LAMP2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Danon disease, MIM# 300257 MONDO:0010281 Tags
Green Green List (high evidence)	LDHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease XI, MIM# 612933 Tags
Green Green List (high evidence)	LPIN1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Myoglobinuria, acute recurrent, autosomal recessive 268200 Tags
Green Green List (high evidence)	MAN2B1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Alpha-mannosidosis MONDO:0009561 Tags
Green Green List (high evidence)	MGME1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Other Victorian Clinical Genetics Services Phenotypes mitochondrial DNA depletion syndrome 11 MONDO:0014039 Tags
Green Green List (high evidence)	MLIP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138 Tags
Green Green List (high evidence)	OBSCN	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Rhabdomyolysis, MONDO:0005290, OBSCN-related Tags
Green Green List (high evidence)	OPA1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429 Tags
Green Green List (high evidence)	PFKM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease VII, MIM# 232800 Tags
Green Green List (high evidence)	PGAM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease X, MIM# 261670 Tags
Green Green List (high evidence)	PGK1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Phosphoglycerate kinase 1 deficiency 300653 MONDO:0010392 Tags
Green Green List (high evidence)	PGM1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type It, MIM# 614921 Tags treatable
Green Green List (high evidence)	PHKA1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscle glycogenosis, MIM# 300559 Tags
Green Green List (high evidence)	PNPLA2	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neutral lipid storage disease with myopathy MIM#610717 Tags
Green Green List (high evidence)	POLG	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459 Progressive external ophthalmoplegia, autosomal dominant 1 157640 Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700 Progressive external ophthalmoplegia, autosomal recessive 1 258450 Tags
Green Green List (high evidence)	POLG2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131 Tags
Green Green List (high evidence)	PRKAG2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Wolff-Parkinson-White syndrome 194200 Cardiomyopathy, hypertrophic 6 600858 Glycogen storage disease of heart, lethal congenital 261740 Tags
Green Green List (high evidence)	PUS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes myopathy, lactic acidosis, and sideroblastic anemia 1 MONDO:0024553 Tags
Green Green List (high evidence)	PYGM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease V McArdle disease 232600 AR Tags
Green Green List (high evidence)	RBCK1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency 615895 Tags
Green Green List (high evidence)	RMND1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Other Phenotypes Combined oxidative phosphorylation defect type 11 MONDO:0013969 Tags
Green Green List (high evidence)	RRM2B	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 Tags
Green Green List (high evidence)	RYR1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes {Malignant hyperthermia susceptibility 1}, 145600 Central core disease, 117000 King-Denborough syndrome, 145600 Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 Minicore myopathy with external ophthalmoplegia, 255320 Tags
Green Green List (high evidence)	SCN4A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Paramyotonia congenita, 168300 Myotonia congenita, atypical, acetazolamide-responsive, 608390 Hypokalemic periodic paralysis, type 2, 613345 Myasthenic syndrome, congenital, 16, 614198 Hyperkalemic periodic paralysis, type 2, 170500 Tags
Green Green List (high evidence)	SCO2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Other Phenotypes cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MONDO:0011451 Tags
Green Green List (high evidence)	SGCA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099 Tags
Green Green List (high evidence)	SIL1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Marinesco-Sjogren syndrome 248800 Tags
Green Green List (high evidence)	SLC22A5	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Royal Melbourne Hospital Phenotypes Carnitine deficiency, systemic primary 212140 Tags treatable
Green Green List (high evidence)	SLC25A20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Carnitine-acylcarnitine translocase deficiency MIM#212138 Tags
Green Green List (high evidence)	SLC25A32	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Exercise intolerance, riboflavin-responsive MONDO:0014795 Tags
Green Green List (high evidence)	SLC25A4	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418 Tags
Green Green List (high evidence)	SLC52A2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Brown-Vialetto-van Laere syndrome 2 MONDO:0013867 Tags
Green Green List (high evidence)	SLC52A3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Brown-Vialetto-van Laere syndrome 1 MONDO:0024537 Tags
Green Green List (high evidence)	SUCLA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 Tags
Green Green List (high evidence)	SUCLG1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Other Phenotypes mitochondrial DNA depletion syndrome 9 MONDO:0009504 Tags
Green Green List (high evidence)	TAMM41	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other Phenotypes Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139 Tags
Green Green List (high evidence)	TANGO2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 Tags
Green Green List (high evidence)	TAZ	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Barth syndrome MIM#302060 Tags
Green Green List (high evidence)	TK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 Tags
Green Green List (high evidence)	TMEM126B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes mitochondrial complex 1 deficiency, nuclear type 29 MONDO:0032633 Tags
Green Green List (high evidence)	TSFM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 3 610505 Tags
Green Green List (high evidence)	TWNK	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286 Tags
Green Green List (high evidence)	YARS2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561 Tags
Amber Amber List (moderate evidence)	ASPH	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Exertional heat illness malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related Tags
Amber Amber List (moderate evidence)	CHKB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Victorian Clinical Genetics Services Phenotypes megaconial type congenital muscular dystrophy MONDO:0011246 recurrent rhabdomyolysis CHKB-Related Muscular Dystrophy Tags
Amber Amber List (moderate evidence)	ETFB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Glutaric acidemia IIB 231680 Tags
Amber Amber List (moderate evidence)	PACSIN3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Myopathy, MONDO:0005336, PACSIN3-related Tags
Amber Amber List (moderate evidence)	SLC52A1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Victorian Clinical Genetics Services Phenotypes Maternal riboflavin deficiency MONDO:0014013 Tags
Amber Amber List (moderate evidence)	TNNT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Green Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 5, Amish type MIM#605355 Tags
Amber Amber List (moderate evidence)	TRPV1	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Exertional heat stroke rhabdomyolysis Tags
Red Red List (low evidence)	AMACR	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Literature Victorian Clinical Genetics Services Phenotypes rhabdomyolysis Tags
Red Red List (low evidence)	AMPD1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Myopathy due to myoadenylate deaminase deficiency 615511 Rhabdomyolysis Tags disputed
Red Red List (low evidence)	COL4A1	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Red Phenotypes Recurrent rhabdomyolysis infections hypertrophic cardiomyopathy. Tags
Red Red List (low evidence)	FKTN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800 Fukuyama congenital muscular dystrophy Tags
Red Red List (low evidence)	KCNJ11	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hyperinsulinemic hypoglycemia, familial, 2 MIM#601820 Tags
Red Red List (low evidence)	MYH1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes rhabdomyolysis, MONDO:0005290 Tags
Red Red List (low evidence)	MYH3	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes paresthesia rhabdomyolysis Tags
Red Red List (low evidence)	PHKB	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 Tags
Red Red List (low evidence)	TRAPPC2L	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 Tags founder
Red Red List (low evidence)	TSEN54	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?Pontocerebellar hypoplasia type 5 610204 Pontocerebellar hypoplasia type 4 225753 Pontocerebellar hypoplasia type 2A 277470 Tags
Red Red List (low evidence)	TTN	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Expert Review Red Phenotypes Congenital titinopathy exercise intolerance Tags
Red Red List (low evidence)	TYMP	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 Tags

Major version comments

2023-06-05 06:28 Bryony Thompson (Royal Melbourne Hospital) promoted panel to 1.0
All genes have been reviewed on this panel

Rhabdomyolysis and Metabolic Myopathy (Version 1.20)

23 reviewers

104 Entities

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